Simpson–Golabi–Behmel syndrome

X-linked recessive

Simpson–Golabi–Behmel syndrome (SGBS) is a rare genetic disorder characterized by pre- and postnatal overgrowth, distinctive facial features, and a variety of other physical abnormalities. It is also known as bulldog syndrome due to the characteristic facial appearance of affected individuals.

Signs and Symptoms

Individuals with Simpson–Golabi–Behmel syndrome often present with the following features:

• Macrosomia (excessive birth weight and length)
• Macroglossia (enlarged tongue)
• Coarse facial features
• Hypertelorism (widely spaced eyes)
• Cleft palate
• Congenital heart defects
• Skeletal abnormalities such as broad ribs and vertebral anomalies
• Polydactyly (extra fingers or toes)
• Developmental delay and intellectual disability in some cases

Genetics

Simpson–Golabi–Behmel syndrome is typically inherited in an X-linked recessive manner. The condition is caused by mutations in the GPC3 gene, which encodes the glypican-3 protein. This protein is involved in cell growth regulation and apoptosis. Mutations in the GPC4 gene have also been implicated in some cases.

Diagnosis

Diagnosis of Simpson–Golabi–Behmel syndrome is based on clinical evaluation, family history, and genetic testing. Prenatal diagnosis may be possible through ultrasound findings and genetic testing if there is a known family history of the disorder.

Management

There is no cure for Simpson–Golabi–Behmel syndrome, and treatment is symptomatic and supportive. Management may include:

• Regular monitoring of growth and development
• Surgical correction of congenital anomalies such as cleft palate
• Management of cardiac defects
• Early intervention programs for developmental delays

Prognosis

The prognosis for individuals with Simpson–Golabi–Behmel syndrome varies depending on the severity of symptoms and associated complications. With appropriate medical care and support, many individuals can lead relatively normal lives.

Related Pages

• Beckwith-Wiedemann syndrome
• Sotos syndrome
• X-linked recessive inheritance
• Congenital heart defect
• Developmental delay

External Links

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